ID   SDQLCHi008-A
AC   CVCL_XI75
DR   hPSCreg; SDQLCHi008-A
DR   SKIP; SKIP005560
DR   Wikidata; Q98129462
RX   PubMed=31505389;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 14262; AUTS2; Unexplicit; Ex1del; Zygosity=Heterozygous; Note=De novo mutation (PubMed=31505389).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C88412; Autism spectrum disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 6
//
RX   PubMed=31505389; DOI=10.1016/j.scr.2019.101557;
RA   Yang X.-M., Zhou T.-C., Zhang H.-Y., Li Y., Dong R., Liu N.,
RA   Pan G.-J., Liu Y., Gai Z.-T.;
RT   "Generation of an induced pluripotent stem cell line (SDQLCHi008-A)
RT   from a patient with ASD and DD carrying an 830kb de novo deletion at
RT   chr7q11.22 including the exon 1 of AUTS2 gene.";
RL   Stem Cell Res. 40:101557-101557(2019).
//